Canonical Allele Identifier: CA9136875

Gene: ARHGEF18

Linked Data

• dbSNP Id: rs749250321
• ExAC: 19:7527045 G / T
• gnomAD v2: 19-7527045-G-T
• MyVariant Identifiers: chr19:g.7527045G>T (hg19) ; chr19:g.7462159G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7462159G>T , CM000681.2:g.7462159G>T	GRCh38
NC_000019.9:g.7527045G>T , CM000681.1:g.7527045G>T	GRCh37
NC_000019.8:g.7433045G>T	NCBI36
NG_047135.1:g.118249G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319670.14:c.1422G>T	ENSP00000319200.8:p.Leu474Phe
ENST00000359920.11:c.1734G>T	ENSP00000352995.5:p.Leu578Phe
ENST00000594665.2:c.1422G>T	ENSP00000470729.2:p.Leu474Phe
ENST00000617428.4:c.1422G>T	ENSP00000482647.4:p.Leu474Phe
ENST00000668164.2:c.2460G>T MANE Select	ENSP00000499655.2:p.Leu820Phe
ENST00000319670.13:c.1422G>T	ENSP00000319200.7:p.Leu474Phe
ENST00000359920.10:c.1896G>T	ENSP00000352995.4:p.Leu632Phe
ENST00000594665.1:c.829G>T
ENST00000617428.2:c.1696G>T
NM_001130955.1:c.1896G>T	NP_001124427.1:p.Leu632Phe
NM_015318.3:c.1422G>T	NP_056133.2:p.Leu474Phe
XM_005272464.3:c.2655G>T	XP_005272521.1:p.Leu885Phe
XM_006722705.2:c.2460G>T	XP_006722768.1:p.Leu820Phe
XM_006722706.2:c.2460G>T	XP_006722769.1:p.Leu820Phe
XM_006722708.2:c.1422G>T	XP_006722771.1:p.Leu474Phe
XM_006722709.2:c.1422G>T	XP_006722772.1:p.Leu474Phe
XM_011527835.1:c.2655G>T	XP_011526137.1:p.Leu885Phe
XM_011527836.1:c.2655G>T	XP_011526138.1:p.Leu885Phe
XM_011527837.1:c.2655G>T	XP_011526139.1:p.Leu885Phe
XM_011527838.1:c.2460G>T	XP_011526140.1:p.Leu820Phe
XM_011527839.1:c.2412G>T	XP_011526141.1:p.Leu804Phe
XM_011527840.1:c.1422G>T	XP_011526142.1:p.Leu474Phe
XM_011527841.1:c.2655G>T	XP_011526143.1:p.Leu885Phe
XM_005272464.4:c.2655G>T	XP_005272521.1:p.Leu885Phe
XM_006722705.3:c.2460G>T	XP_006722768.1:p.Leu820Phe
XM_006722706.3:c.2460G>T	XP_006722769.1:p.Leu820Phe
XM_011527835.2:c.2655G>T	XP_011526137.1:p.Leu885Phe
XM_011527836.2:c.2655G>T	XP_011526138.1:p.Leu885Phe
XM_011527837.2:c.2655G>T	XP_011526139.1:p.Leu885Phe
XM_011527838.3:c.2460G>T	XP_011526140.1:p.Leu820Phe
XM_011527839.2:c.2412G>T	XP_011526141.1:p.Leu804Phe
XM_011527840.2:c.1422G>T	XP_011526142.1:p.Leu474Phe
XM_011527841.2:c.2655G>T	XP_011526143.1:p.Leu885Phe
NM_001130955.2:c.1734G>T	NP_001124427.2:p.Leu578Phe
NM_001367823.1:c.2460G>T MANE Select	NP_001354752.1:p.Leu820Phe
NM_001367824.1:c.1422G>T	NP_001354753.1:p.Leu474Phe
NM_015318.4:c.1422G>T	NP_056133.2:p.Leu474Phe